rs132630272

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs132630272(C;C)

Make rs132630272(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

48684394

Gene

WAS

is a	snp
is	mentioned by
dbSNP	rs132630272
dbSNP (classic)	rs132630272
ClinGen	rs132630272
ebi	rs132630272
HLI	rs132630272
Exac	rs132630272
Gnomad	rs132630272
Varsome	rs132630272
LitVar	rs132630272
Map	rs132630272
PheGenI	rs132630272
Biobank	rs132630272
1000 genomes	rs132630272
hgdp	rs132630272
ensembl	rs132630272
geneview	rs132630272
scholar	rs132630272
google	rs132630272
pharmgkb	rs132630272
gwascentral	rs132630272
openSNP	rs132630272
23andMe	rs132630272
SNPshot	rs132630272
SNPdbe	rs132630272
MSV3d	rs132630272
GWAS Ctlg	rs132630272

Max Magnitude

0

OMIM	300392
Desc
Variant	0009
Related	also

ClinVar
Risk	rs132630272(C;C)
Alt	rs132630272(C;C)
Reference	Rs132630272(T;T)
Significance	Pathogenic
Disease	Wiskott-Aldrich syndrome
Variation	info
Gene	WAS
CLNDBN	Wiskott-Aldrich syndrome, attenuated
Reversed	0
HGVS	NC_000023.10:g.48542783T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011871.6,